Congenital Malformations In Children Research Articles

Appendicular Syndrome revealing ileal duplication (case report)

Introduction: Digestive duplications are rare congenital malformations in children, albeit not uncommon, characterized by a wide range of pathogenic, clinical, and histological variations. A definitive diagnosis relies on preoperative examination of the lesion followed by anatomopathological confirmation. Objective of this study was to investigate the epidemiological, clinical, and paraclinical aspects of digestive duplications, as well as their management and postoperative evolution. Herein, we present a case of ileal duplication in a 9-year-old child admitted with symptoms suggestive of appendicular syndrome, which was successfully managed with surgical treatment. Observation: The patient, a nine-year-old child, presented with symptoms consistent with appendicular syndrome. Abdominal ultrasound revealed indirect signs of appendicitis, along with minimal fluid collection in the right lower abdomen. Further exploration unveiled a mesenteric cystic mass comprising two portions, one of which was necrotic, while the appendix appeared normal. Subsequent resection of the mass was performed, and histopathological examination confirmed ileal duplication. The postoperative course was uneventful. Conclusion: Digestive duplications are rare malformations that should be considered, particularly when encountering digestive symptoms. Surgical excision remains imperative to prevent complications in an otherwise benign condition.

Diagnosis and Management of Congenital Coronary Artery Fistulas in Infants and Children.

Coronary artery fistulas (CAFs) are rare coronary anomalies that most often occur as congenital malformations in children. Although most children with CAFs are asymptomatic at the time of diagnosis, some present with symptoms of congestive heart failure in the setting of large left-to-right shunts. Others may develop additional complications including coronary artery ectasia and coronary thrombosis. Surgical and transcatheter closure techniques have been previously described. This review presents the classifications of CAFs in children and the short and long-term outcomes of CAF closure in children in the reported literature. We also summarize previously-reported angiographic findings and post-treatment remodeling characteristics in pediatric patients. With advancements in cross-sectional imaging technologies, anatomic delineation of CAFs via these modalities has become crucial in procedural planning. Recent reports of surgical and transcatheter closure of CAFs in children have reported good procedural success and low rates of short-term morbidity and mortality. Distal-type CAFs have elevated risk for long-term sequelae post-closure compared to proximal-type CAFs. A recent report of a multi-institutional cohort also describes post-closure remodeling classifications which may predict long-term outcomes in these patients as well as guide individualized anticoagulation management. Invasive closure of significant CAFs via surgical or transcatheter techniques is feasible and safe in most children with good short and intermediate-term outcomes. However, close clinical and imaging follow-up is required to monitor for late complications even after successful closure. Antiplatelet and anticoagulation regimens remain important aspects of post-closure management, but the necessary intensity and duration of such therapy remains unknown.

Вроджена серединна розщілина шиї (огляд літератури та опис власних клінічних спостережень)

Midline cervical cleft - (synonym: webbed neck, pterygium colli medianum, neck ugliness), belongs to rare congenital defects which, unfortunately, have not been widely covered in the specialized medical literature at the modern stage of the development of medicine. It is confirmed by the fact that until 2014 according to the literature search there were a little over 100 detailed descriptions of the respective pathology. Purpose - to summarize the experience accumulated by experts in order to understand deeper all the aspects of Congenital midline cervical cleft, to introduce the present position of this rare congenital malformation to colleagues, to learn the structural parts of this pathology and the tactic for its treatment. The article represents the last data from scientific literature about Congenital midline cervical cleft and the analytic results of the two medical cases with this congenital malformation in children. Studying these cases, we used general clinical tests and histological research for the removal tissues. Conclusions. The current lack of information on the midline cervical cleft as well as the results of histological examinations in different clinical cases confirm the necessity of further study of this rare congenital defect. In this case, a deeper analysis of embryological, genetic and environmental factors influencing the process of formation of this pathology can be of help. In our opinion, performing the surgery becomes appropriate before two-year age in order to prevent the relapse of this pathology and severe neck contractures in the future. The study was carried out in accordance with the principles of the Helsinki declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Analysis of the factors which may have influenced the incidence of congenital malformations in children born in the province of Warmia and Mazury between 1999 and 2000

<b>Introduction.</b> Congenital malformations have been known about for ages, but the reasons for their development have always been shrouded in mystery. All efforts to explain such reasons as to relating to the natural forces of God’s revenge have not stood the test of time. Still, the knowledge concerning the aetiology of malformations is not complete; we know, however, about many factors which may contribute to their development during various stages of embryogenesis. <b>Aim.</b> The aim of this paper is the analysis of specific factors which may have contributed to the development of congenital malformations in children born in the Province of Warmia and Mazury between the years 1999 and 2000. <b>Materials and methods.</b> The author of this paper, who is involved in the creation of the Polish Register of Congenital Malformations (PRCM), evaluated case records of newborns who had been reported to have been born with congenital malformations. The data recorded in this Register, maintained by the Chair and Department of Medical Genetics at the Medical Academy (at present Medical University) in Poznań, was verified by specialists, and later analysed according to the methodological principles of this work. The analysis included: fetal age and birth weight, mother’s age and education, as well as mother’s place of residence. Statistical analysis was carried out by means of Statistica v.6.1 software. <b>Results and discussion.</b> Congenital malformations were found in 276 boys, with a malformations incidence factor of 166.8/10000 for boys, and in 212 girls, the malformations incidence factor being 136.2/10000 for girls. The higher incidence of congenital malformations in boys was caused by a nearly 10 times higher incidence of urinary system defects. The incidence of congenital malformations in newborns whose mothers resided in cities amounted to 132.9/10000 of newborns born in cities. The incidence of congenital malformations in newborns of mothers residing in the country was 141.9/10 000 of newborns born in the country. It was also noted that the incidence of congenital malformations was 2–3 times higher in children with low birth weight in comparison to the general population. The highest incidence of congenital malformations was found in those children whose mothers were 35 years of age or older at the time of giving birth. Advanced maternal age was the most significant factor in the development of malformations caused by chromosome aberrations. Creating a district map presenting the incidence of malformations may be the first step to further research concerning those specific geographical regions at high risk of congenital malformations. The highest incidence, irrespective of the type of malformation, was observed in the districts of: Mrągowo, Ostróda and Braniewo, whereas the lowest was found in the districts of: Ełk, Olecko and Gołdap, and Giżycko. <b>Conclusions.</b> Having analysed all pertinent data, it was then concluded that: 1. Male sex correlates with the incidence of congenital malformations of the genitals. 2. Low birth weight correlates with an increased incidence of congenital malformations. 3. The incidence of congenital malformations in particular districts is diversified, pointing to the significance of necessary further research in order to identify those specific geographical locations having the highest malformations incidence factors.

Little evidence of malformation risk in antipsychotic‐exposed children

Acohort study examining data from six countries has found little evidence of an association between antipsychotic exposure in the first trimester of pregnancy and increased risk of congenital malformations in children. An analysis of individual drugs and specific malformations found a small number of observed risks, but the investigators said these would need to be confirmed in additional research. Study results were published online Dec. 7, 2022, in JAMA Psychiatry.

Сочетание врожденных пороков желудочно-кишечного тракта и почек: клинический случай

Currently, the correction of congenital malformations in children is one of the important tasks of modern medicine. If a radical correction of the defect is performed timely, the child will grow up healthy. Combinations of congenital malformations create serious difficulties for clinicians and require the participation of a multidisciplinary team, combining various approaches and methods. The article presents a clinical case of a newborn child with atresia of the ileum, hypoplasia of the aortic arch and bilateral hypoplasia of the kidneys. Since birth, the child’s condition was complicated by the development of shock and subsequent azotemia, hyperhydration. Since the correction of atresia could not be postponed for a long time, it was decided to perform implantation of a peritoneal catheter during surgery on the intestine in case of a repeat episode of acute kidney injury. The presented clinical case demonstrates the possibility of renal replacement therapy in patients after surgery in the abdominal cavity.

Frequency of congenital malformations in the ecological zones of rural areas of the Republic of Dagestan

One of the indicators of the health of the child population is the frequency of congenital malformations (CMD), which include volume and death. The incidence rate of congenital malformations is one of the objective indicators reflecting the socio-economic and environmental well-being of society. The frequency and structure of significant congenital malformations vary not only in different states, but also within and within the territory of one country. The purpose of this study was a retrospective assessment of the features of the epidemiology of congenital malformations in children by ecological zones and resources in the risk zone of Dagestan in 2015–2019. The WPR in Dagestan is characterized by intensive growth over a 5‑year period, as well as a wide range of emissions across ecological zones and administrative regions of limited territories and cities. In the environmental monitoring zone in 2016, the CPP showed 67.1 %, and in 2017 — negative — 2.3 %, in the foothill environment there was a positive and fluctuating from 83.3 % in 2016 to 2, 3 % — in 2017. In the mountainous environment observed in 2016 and 2017. The CPP was controversial, at 28.1 % and 20.0 % respectively. In Dagestan, for 5 years, the CPP was estimated, although it fluctuated significantly over the years. The problems of CM deserve closer attention, and not only and not so much in terms of epidemiological and environmental plans. Prevention of congenital malformations is one of the environmental problems in the field of health protection.

THE UNPREDICTABLE HISTORY OF THALIDOMIDE

The article reflects the history of thalidomide, synthesized by the West German pharmaceutical company Chemie Gr?nenthal in 1954. Initially the drug was promoted as an effective hypnotic, devoid of the adverse effects of barbiturates. The drug became very popular in Germany and beyond its borders, and had been used in more than 40 countries. At some point thalidomide began to be offered for the treatment of nausea in pregnancy. However with time a gradual increase in the incidence of congenital malformations in children whose mothers took thalidomide during pregnancy was noted. Two doctors – Widukind Lenz and William McBride – are known for drawing public attention to the dangerous consequences of the drug usage in pregnancy. Initially, thalidomide manufacturers denied their guilt, however a numerous number lawsuits obliged pharmaceutical companies to pay huge financial compensations to the victims of thalidomide. In the United States, FDA employee Francis Kelsey became famous for not giving permission for thalidomide for the US pharmaceutical market despite its unrestricted usage in European countries. The article provides information about some thalidomide victims who were able to live an active life and become famous. After the recognition of the thalidomide tragedy the therapeutic usage of the drug seemed to be irrevocably terminated. However, in 1964 the Israeli doctor Yakov Sheskin almost by occasion discovered the therapeutic effect of thalidomide on some types of leprosy. In subsequent years the effectiveness of the drug was reported in a number of other diseases. However, the “thalidomide tragedy” with its teratogenicity is still holding back the widespread use of the drug. The bad experience of thalidomide should be a painful lesson for the pharmaceutical industry, but unfortunately, the story can be repeated, that is exemplified by the obesity drug scandal this year.

Hyperglycemia affects neuronal differentiation and Nestin, FOXO1, and LMO3 mRNA expression of human Wharton's jelly mesenchymal stem cells of children from diabetic mothers

Pregestational Diabetes Mellitus (PDM) during pregnancy constitutes an unfavorable embryonic and fetal development environment, with a high incidence of congenital malformations (CM). Neural tube defects are the second most common type of CM in children of diabetic mothers (CDM), who also have an elevated risk of developing neurodevelopmental disorders. The mechanisms that lead to these neuronal disorders in CDM are not yet fully understood. The present study aimed to know the effect of hyperglycemia on proliferation, neuronal differentiation percentage, and expression of neuronal differentiation mRNA markers in human umbilical cord Wharton's jelly mesenchymal stem cells (hUCWJMSC) of children from normoglycemic pregnancies (NGP) and PDM. We isolated and characterized hUCWJMSC by flow cytometry, immunofluorescence, RT-PCR and were induced to differentiate into adipocytes, osteocytes, and neurons. Proliferation assays were performed to determine the doubling time, and Nestin, TUBB3, FOXO1, KCNK2, LMO3, and MAP2 mRNA gene expression was assessed by semiquantitative RT-PCR. Hyperglycemia significantly decreased proliferation and neuronal differentiation percentage in NGP and PDM cells treated with 40 mM d-glucose. Nestin mRNA expression decreased under control glycemic conditions, while FOXO1, KCNK2, LMO3, and MAP2 mRNA expression increased during neuronal differentiation in both NGP and PDM cells. On the other hand, under hyperglycemic conditions, Nestin was significantly decreased in cells from NGP but not in cells from PDM, while mRNA expression of FOXO1 and LMO3 was significantly increased in cells from NGP, but not in cells from PDM. We found evidence that maternal PDM, with hyperglycemia in culture, affects the biological properties of fetal cells. All these results could be part of fetal programming.

Neonatal outcomes and congenital malformations in children born after progestin-primed ovarian stimulation protocol.

The purpose of this study is to assess the safety of progestin-primed ovarian stimulation (PPOS) protocol regarding the neonatal outcomes and congenital malformations in babies born after in vitro fertilization (IVF) and frozen embryo transfer (FET). In this large retrospective cohort study, a total of 16,493 infants born between 1 September 2013 and 31 July 2021 from IVF and FET cycles after treatment with either PPOS (n = 15,245) or gonadotropin-releasing hormone antagonist (GnRH-ant) (n = 1,248) were finally enrolled. The primary outcome measure was the incidence of congenital malformations. The secondary outcome measures were rates of low birth weight (LBW), very low birth weight (VLBW), preterm birth (PTB), very preterm birth (VPTB), and early neonatal death. Birth characteristics for both singletons and twins regarding the sex of infants, gestational age, birth weight, and birth length were comparable between the PPOS group and the GnRH-ant group. Rates of LBW, VLBW, PTB, VPTB, and early neonatal death were also similar. The reanalysis using propensity score matching (PSM) and multivariable logistic regression indicated that the PPOS protocol could not increase the risk of adverse neonatal outcomes compared with the GnRH-ant protocol. Furthermore, no significant difference was observed in the overall incidence of congenital malformations in live-born babies. After PSM and controlling for all confounders, the results remained insignificant with an adjusted odds ratio of 0.66 [95% confidence interval (CI) 0.32-1.34] and 2.43 [95% CI 0.97-6.06], respectively, for singletons and twins. Our study suggests that compared with GnRH-ant treatment for IVF, the PPOS protocol could not produce a negative effect on the newborn population in terms of neonatal outcomes and congenital malformations.

PSUN338 A 2 year-old Girl with a Congenital Portosystemic Shunt and Hypoglycemia Due to Secondary Hyperinsulinism Treated with Uncooked Cornstarch

Abstract Background Hepatic portosystemic shunts (Abernethy malformation) are rare congenital malformations in children, which result in direct connections of splanchnic venous drainage to systemic circulation, bypassing hepatic uptake and metabolism. Congenital portosystemic shunts (CPSS) can also rarely lead to secondary hyperinsulinism and hypoglycemia. We describe a case of a 2-year-old girl with a CPSS presenting with hypoglycemia due to reactive hyperinsulinism successfully treated with uncooked cornstarch. Clinical Case A 2-year-old girl presents for evaluation of altered mental status and hypoglycemia. Three months earlier she was treated for Lemierre syndrome and found to have a CPSS (severely hypoplastic portal vein with direct drainage of splanchnic vasculature into the IVC) with hyperammonemia treated with lactulose and rifaximin. This admission, she presented with lethargy and altered mental status as she was difficult to arouse. EMS detected a glucose of 19 mg/dl and treated her with a bolus of 25% dextrose fluids. The day before, she had eaten a typical dinner of cookies and mashed potatoes without concern. On admission, she had no elevation in urine ketones and her blood gas measurements, alcohol, and ammonia levels were within normal limits, as such a diagnosis of secondary hyperinsulinism was suspected. A 3-hour OGTT with 2 g/kg glucose was performed after 2 days of stable oral intake and normoglycemia. Her fasting glucose was 74 mg/dl with a baseline insulin of 9.3 mcIU/ml. Within 1 hour, her glucose rose to 223 mg/dl with an insulin of 247.14 mcIU/ml. At 3 hours (2-hour levels not obtained) her glucose dropped to 67 mg/dl and with an insulin of 24.83 mcIU/ml. Thirty minutes after completion of the OGTT (3.5 hours from glucose load) she became lethargic with a glucose of 45 mg/dl confirming suspicion for secondary hyperinsulinism induced hypoglycemia. Education on glucose monitoring, hypoglycemia management and dietary changes were made to include meals with sufficient fat and protein to help reduce postprandial hyperglycemia. Additionally, uncooked cornstarch 1.4 g/kg was started to provide an overnight source of carbohydrates while avoiding rapid absorption. At 3 months her mother reported no hypoglycemic episodes with fasting glucose levels 80-100 mg/dl. Clinical Lessons Hypoglycemia can occur in CPSS patients due to secondary hyperinsulinism. The vascular malformation causes postprandial hyperglycemia, from the absence of first-pass uptake of glucose by the liver, which leads to insulin secretion. However, insulin similarly bypasses hepatic uptake and degradation after release (normally clears up to 80% of insulin), and the systemic circulation and peripheral tissues are exposed to elevated levels leading to hypoglycemia. While surgical correction provides definitive treatment, uncooked cornstarch can maintain euglycemia both by decreasing postprandial hyperglycemia and by providing a slowly absorbed source of carbohydrate. Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.

Dynamics of the incidence of congenital malformations in children in Chelyabinsk based on the results of epidemiological monitoring in 2012–2017

Congenital malformations are not only a medical, but also a serious social problem, since this pathology is a leading cause of perinatal, neonatal, and infant morbidity, disability, and mortality.Purpose. To analyze the variation dynamics in the incidence of groups of congenital malformations, the structure of congenital malformations according to the average incidence, and the consistency of changes in the incidence of individual groups of congenital anomalies in children of Chelyabinsk based on the results of epidemiological monitoring in 2012–2017.Material and methods. To assess the frequencies of congenital malformations, we used the monitoring data of the Regional Medicaland Genetic Consultation Office in Chelyabinsk for the period from 2012 to 2017, for Down syndrome (T21) from 2012 to 2018. The total number of newborns over the six-year period was 102,308, of which 2101 children were registered with congenital malformations, including live-born, stillborn children, and fetuses with malformations identified through prenatal diagnostics. Clinical data on newborns was grouped into 11 congenital malformations categories based on the International Classification of Diseases. The statistical analysis of the monitoring results was carried out using methods of descriptive statistics, samples comparisons, correlation, and cluster analysis.Results. The incidence of all registered congenital malformations in newborns in Chelyabinsk was 20.7 per 1000 births (95% CI: 17.4–25.4) during the study period. In newborns of the Chelyabinsk city in 2012–2017, the prevalence of congenital malformations of the circulatory system (42.8%), chromosomal abnormalities (11.9%), and anomalies of the musculoskeletal system (10.3%) was observed. The relative frequency of Down syndrome for the period from 2012 to 2018 ranged from 1.51‰ to 2.42‰, considering both children born with this pathology and the data on prenatal diagnostics.Conclusion. The hierarchy of congenital malformations was reproduced from year to year with a predominance of circulatory anomalies, chromosomal anomalies, and musculoskeletal anomalies of the system. The overall incidence of all congenital malformations in Chelyabinsk in 2012–2017 does not exceed the average values for the Russian Federation, while the incidence of Down syndrome exceeded the average national level.

Anaesthesia in Correction of Anorectal Defects in Children

Anorectal abnormalities are among the most common congenital malformations in children requiring emergency surgical interventions. The objective is to analyze existing domestic and foreign publications on the features of anesthesia in anorectal abnormalities in children. Subjects and Methods. The search for publications was carried out in the abstract bases of Russian Scientific Citation Index, PubMed and Scopus according to the key words: anorectal abnormalities, anesthesia, regional anesthesia, children. 105 publications were found, 49 studies were selected for analysis. Results. For the purpose of anesthesia, both general and regional anesthesia are used to correct anorectal anomalies. Among regional techniques, spinal and caudal anesthesia is most often used. The most effective anesthesia option for anorectal surgery is saddle anesthesia since it is accompanied by a significant decrease in the tone of the anal sphincter. Combined use of general anesthesia and caudal analgesia contributes to the reduction of intraoperative blood loss and early restoration of bowel functions. Conclusion. Further research is needed to establish rapid pos t-o perative recovery protocols for anorectal malformations in children.

Does Testicular Sperm Alter Reproductive and Perinatal Outcomes in Assisted Reproductive Technology Cycles? 10 Years' Experience in an Indian Clinic.

Intra-Cytoplasmic Sperm Injection (ICSI) has revolutionized the reproductive outcomes for couples with male factor infertility. Especially in azoospermic men, use of ICSI with surgically retrieved testicular sperm has helped them have their own biological child. However, considering the immature nature of testicular sperm safety of testicular sperm has been debated. To compare reproductive outcomes, neonatal outcomes and the incidence of congenital malformations in children born after intracytoplasmic sperm injection (ICSI), using different sperm origins. This is a retrospective study in which a total of 989 participants were enrolled. Study group (Testicular Sperm Aspiration (TESA) ICSI group) had 552 couples with female partners aged ≤37 and had self gamete cycles. ICSI cycles with ejaculated sperm (EJS) acted as the control group. All male patients underwent surgical sperm retrieval and all the women underwent controlled ovarian stimulation and transvaginal oocyte retrieval and Ovum Pick Up (OPU) as per the standard operating procedures of the clinic. Frozen embryo transfer with two good-grade blastocysts, which had shown 100% survival, were transferred in subsequent cycles. The Student's t-test was performed for age distribution; odds ratio was performed to find the confounding factors. Embryonic and reproductive outcomes were comparable and not statistically significant in the study and control groups. Incidence of congenital anomalies was observed in singleton live births and twin live births in both the TESA-ICSI group and the EJS-ICSI group, but the difference was not statistically significant. Our study revealed that congenital malformations in children born out of ICSI using testicular sperm and EJS were similar; no difference was observed in miscarriages between the testicular sperm-ICSI and EJS-ICSI group. Our data suggests that surgical sperm retrieval in couples with male factor infertility does not alter their reproductive outcome.

Assessment of dietary nutrient intake and its relationship to the nutritional status of children with congenital heart disease in Guangdong province of China.

Congenital heart disease (CHD) is the common congenital malformations in children and cause malnutrition. We determine the association between dietary nutrient intake and nutritional status of children with CHD. 428 children of age 1-10 years with CHD admitted. The dietary nutrient intake was recorded after 3 days of 24-h recall. The growth and nutritional status of children were evaluated using anthropometric measurements and z-scores. The prevalence of malnutrition was 37.6% in CHD. 57.8%, 12.6%, 43.8%, and 40.6% of children did not meet their requirements for energy, protein, fat, and carbohydrate, respectively. The prevalence of insufficient intake was 88.3% for calcium, 35.9% for magnesium, 21.9% for iron, and 12.5% for zinc. 15%-86% of children did not meet vitamin requirements. 85.2% and 53.9% of children did not meet their requirements for vitamin A and vitamin C. The prevalence of insufficient intake was 39.1% for thiamin, 24.2% for riboflavin, 15.6% for niacin and 28.1% for vitamin E. Compared with the normal nutrition group, malnutrition group had a relatively lower intake of proteins, iron, zinc and vitamin E. An obvious deficiency of dietary nutrient intake was found among children with CHD, especially CHD with malnutrition. Dietary intake related to the nutritional status of children with CHD. The gap between actual consumption and recommendation indicates a need for improved nutritional counseling and monitoring. Early interventions targeting the dietary intakes of children with CHD may be a benefit for long-term effects associated with nutritional status.

Effect of anesthesia on hemodynamics in correction of anorectal abnormalities in children: a randomized study

INTRODUCTION: Anorectal anomalies are one of the most common congenital malformations in children that require corrective surgical interventions. OBJECTIVE: To study the influence of anesthesia on the hemodynamic indices in the correction of anorectal anomalies in children. MATERIALS AND METHODS: A prospective single-center randomized study. Sixty children were examined, all underwent posterior sagittal anorectoplasty according to Penya. Children were divided into two groups: group 1 — combined anesthesia (n = 30), group 2 — general with regional anesthesia (n = 30). The study included five stages: Stage I — one day before surgery; Stage II — after induction of anesthesia; Stage III — bowel reduction; Stage IV — awakening; Stage V — one day after surgery. Heart rate (HR), systolic and diastolic blood pressure (BP), ejection fraction (EF) and stroke volume (SV) were assessed during the study. RESULTS: It was revealed that at the stage of bowel movement in children where concomitant anesthesia was used, there was a more pronounced decrease of HR (120 vs 106; p < 0.001). Similar changes were characteristic of diastolic BP (48 vs 42; p < 0.001). Mean BP was also significantly lower in the concomitant anesthesia group, and this was statistically significant in both stages III and IV (59.3 vs 54.7, p < 0.001; 61.5 vs 57.0, p < 0.001). In the group where combined anesthesia was used, a decrease in stroke volume was noted at the awakening stage, which was statistically significant compared to the I–III stages. The maximum ejection fraction indices were observed at the stage of bowel lowering against the background of combined anesthesia, which was statistically significant compared to other stages of the study CONCLUSIONS: At the stage of bowel reduction using concomitant anesthesia there was a significant statistically significant decrease of HR and systemic BP which was most probably due to the powerful sympatholytic effect of local anesthetics.

Влияние полиморфизма гена ABCB1, кодирующего гликопротеин Р, на врожденные пороки развития

Objective. To assess the influence of the ABCB1 gene polymorphism on the risk of congenital malformations (CM) among pregnant women in the Russian Federation. Patients and methods. This prospective study included 170 mother–baby pairs. The study group consisted of 87 pairs and included children with CM. The control group included 83 pairs without CM in children. Genotyping of the ABCB1 gene polymorphism rs1045642 in mothers and children in the study group and in mothers in the control group was performed by CFX-96 real-time PCR amplification. The frequencies of alleles and genotypes in children with folate-dependent and folateindependent malformations were analyzed in children and their mothers. Results. No association of CM with the ABCB1 gene polymorphism rs1045642 was found. However, women who gave birth to children with CM tended to have a lower frequency of the 3435T allele and the 3435TT genotype and a higher frequency of the 3435CC genotype. Significant differences in the frequencies of the gene polymorphism rs1045642 (p = 0.036) were observed among women who gave birth to children with folate-dependent and folate-independent CM, which was associated with a higher frequency of heterozygous genotype 3435ST in the mothers of children with folate-independent CM. This result needs to be confirmed by further studies. Conclusion. Significant differences in the frequencies of the genotypes of rs1045642 polymorphism in women who gave birth to children with folate-dependent and folate-independent CM were revealed. Key words: congenital malformations, P-glycoprotein, ABCB1 gene polymorphism

Mapping and Epidemiological analysis of types of Congenital Malformations in a Teaching Hospital

Introduction: The World Health Organization (WHO) defines as congenital malformation, all anomalies triggered by the alteration of normal development resulting in a deficient formation from the initial stage of the fetus still in intrauterine, whose origin occurs before birth, having causes genetic, environmental or unknown, whether structural or functional, these disorders can be seen in prenatal care, childbirth, or even manifested in childhood. Background: To map and analyze epidemiological data on congenital malformations in children at a Teaching Hospital in the interior of the State of São Paulo. Materials and Methods: Data were collected from children with congenital malformations between the years 2010 and 2017, searched through the International Disease Code (ICD 10) with codes from Q00 to Q89. During the analysis of the medical records, 30,309 male and female children with congenital malformations were identified, aged between 1 day and 12 years. Results: 30,309 male and female children with congenital malformations were identified (16,956 male or 54.75% and 13,713 female or 45.25%) aged between 1 day and 12 years (19,587 from 0 to 4 years or 64.63 %; 5,780 from 5 to 8 years or 19.07% and 4,942 from 9 to 12 years or 16.30%). The main types of congenital malformations were found: cardiac and circulatory or 42.32%; spinal cord or 12.34%; congenital clubfoot or 11.07%; male and female genitals and urinary tracts or 8.97% which add up to 74.70%. Conclusion: Congenital malformations are rare anomalies and this study concluded that they are mostly associated with male gender, early age and with a predominance of cardiac and circulatory alterations.

P–788 Health outcomes at birth, 12 and 24 months of 747 children conceived after Preimplantation Genetic Testing: a single centre experience

Abstract Study question Does conception by Preimplantation Genetic Testing (PGT-M, PGT-SR) adversely affect health outcomes in children born through this assisted reproductive technique? Summary answer No significant difference was noted in the rate of congenital malformations in children born after PGT-M and PGT-SR compared with IVF-ICSI children. What is known already It is already known that the risk of congenital anomalies in IVF-ICSI pregnancies is higher when compared with pregnancies conceived naturally. Study design, size, duration This is a prospective study on 747 children born between December 1999 and July 2016 after a cycle of PGT-M or PGT-SR (IVF +/- ICSI + embryo biopsy) performed at a single London reproductive centre. PGT-A is not performed in the Centre, so pregnancy outcomes in this group are not relevant. The children were examined at birth, at 12 and 24 months of age and the data collected in three questionnaires. Participants/materials, setting, methods 747 PGT-M and PGT-SR children were enrolled in the study. 742/747 were examined at birth, 444/747 at 12 months and 168/747 at 24 months. The assessment consisted of three separate questionnaires completed at birth, 12 months and two years of age. The first questionnaire focused on the detection of congenital anomalies in newborn babies. The questionnaire at follow up recorded growth data and examination of the baby’s health and development. Main results and the role of chance We found no evidence that PGT-M and PGT-SR increased the risk of an adverse perinatal outcome when compared with children born after IVF-ICSI. The overall malformation rate in our group of live born after PGT-M and PGT-SR was 3.9% and of major malformations was 2%. These values are comparable with literature data on malformation risk in children born after IVF-ICSI. In terms of misdiagnosis, we had one misdiagnosis of SMA type 1 in 658 pregnancies obtained. This was very early on in the centre’s experience of offering PGT-M. Follow-up visits in our cohort allowed us to evaluate their development. Unfortunately, the low participation rate at 24 months (23%) significantly reduced the size of our cohort. We observed a cumulative value of 10% at 24 months of babies with developmental delay which is comparable with the value of 10% given by the WHO, but is twice the incidence Global Research on Developmental Disabilities Collaborators described in the UK in 2016 (4.6%). To our knowledge, no large studies have assessed the risk of developmental delay in children born after PGT. We cannot draw conclusions on this from our small cohort at 24 months and recommend further studies. Limitations, reasons for caution Although our sample is one of the largest reported, it is too small to generalise results due to the heterogeneity of the conditions for which PGT was being offered and the rarity of these conditions. There were multiple confounding factors including couple’s fertility background, varying fertility treatments and embryological techniques. Wider implications of the findings: Our results support published literature highlighting the safety of PGT-M and PGT-SR techniques. We followed up at birth, 12 months and 24 months a large cohort of children, in one of the largest datasets published so far. Trial registration number Not applicable

Antiseizure medications use during pregnancy and congenital malformations: A retrospective study in Saudi Arabia

AimTo evaluate the incidence of congenital malformations in children exposed prenatally to antiseizure medications (ASMs), to assess other perinatal and fetal complications, and to determine the potential predictors for these complications. MethodA retrospective review of pregnancy outcomes of women with epilepsy. Patients were followed up at the King Faisal Specialist Hospital and Research Centre, Riyadh and Jeddah, Saudi Arabia, between Dec 1993 and Oct 2020. ResultsOf 162 pregnancies included, 10 (6.17%) congenital malformations were observed, 6.82% in ASM-exposed babies versus 3.33% in babies of epilepsy-untreated mothers (P = 0.69). The overall incidence of perinatal and fetal complications was 53%; most frequent were low birth weight (24%), preterm birth (19%), transfer to neonatal intensive care unit (18%) and abortion (8%). These complications were higher in the untreated group (66.67%) than in the ASM group (50%). The use of other non-antiseizure medications during pregnancy was the only factor that significantly increased the risk of complications. ConclusionPrenatal exposure to ASMs was associated with increased risk of congenital malformations. However, overall perinatal and fetal complications were higher in the untreated group than in the ASM group, which could be explained by maternal seizures. Therefore, taking ASMs to control epilepsy and prevent perinatal complications may outweigh the risks of teratogenicity.